HOME HELP FEEDBACK TABLE OF CONTENTS ARCHIVE SUBSCRIPTIONS		QUICK SEARCH:   [advanced] Author: Keyword(s): Year:  Vol:  Page:

This Article Full Text Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via Google Scholar Google Scholar Articles by De Weer, A. Search for Related Content PubMed PubMed Citation Articles by De Weer, A.

EVI1 overexpression in t(3;17) positive myeloid malignancies results from juxtaposition of EVI1 to the MSI2 locus at 17q22

¹ Centre for Medical Genetics Gent (CMGG), Ghent University Hospital, Ghent, Belgium
² Department of Hematology, Hospital St-Jan, Bruges, Belgium
³ Department of Clinical Chemistry, Microbiology and Immunology, Ghent University Hospital, Ghent, Belgium
⁴ Department of Pediatric Hemato-Oncology, Ghent University Hospital, Ghent, Belgium
⁵ Department of Hematology, Ghent University Hospital, Ghent, Belgium
⁶ Laboratoire d’Hématologie, Groupe Hospitalier Haut-Leveque – CHU de Bordeaux, Bordeaux, France
⁷ Laboratoire d’Hématologie, Hôpital de Hautepierre, Strasbourg, France
⁸ Genetic laboratory and EMI 9906, Centre Henri Becquerel, Rouen, France
⁹ Centre for Human Genetics, University of Leuven, Leuven, Belgium
¹⁰ Laboratoire d'Hématologie, Hôpital Purpan, Toulouse, France

Correspondence: Bruce Poppe, Centre for Medical Genetics Gent (CMGG), Ghent University Hospital 185, De Pintelaan B-9000, Ghent, Belgium. E-mail:bruce.poppe{at}ugent.be

Chromosomal translocations involving the EVI1 locus are a recurrent finding in myeloid leukemia and are associated with poor prognosis. In this study, we performed a detailed molecular characterization of the recurrent translocation t(3;17)(q26;q22) in 13 hematologic malignancies. The EVI1 gene locus was rearranged in all 13 patients and was associated with EVI1 overexpression. In 9 out of 13 patients, the 17q breakpoints clustered in a 250 kb region on band 17q22 encompassing the MSI2 (musashi homologue 2) gene. Expression analyses failed to demonstrate ectopic MSI2 expression or the presence of an MSI2/EVI1 fusion gene. In conclusion, we show for the first time that the t(3;17) is indeed a recurrent chromosomal aberration in myeloid malignancies. In keeping with findings in other recurrent 3q26 rearrangements, overexpression of the EVI1 gene appears to be the major contributor to leukemogenesis in patients with a t(3;17).

Key words: EVI1, MSI2, myeloid malignancies, t(3;17), FISH.